Enhanced Risk Stratification in Early-Stage Endometrial Cancer: Integrating through Droplet Digital PCR and L1CAM.

AIM

In order to enhance risk stratification in early-stage endometrial cancer (EC), we conducted molecular classification using surrogate markers, including the droplet digital polymerase chain reaction (ddPCR) and L1CAM immunohistochemistry (IHC).

METHOD

We analyzed archival tumor tissue from 183 early-stage EC patients. pathogenic mutations of P286R, V411L, S297F, A456P, and S459F within exons 9, 13, and 14 were detected using a ddPCR, while the mismatch repair (MMR) status was determined by MMR protein IHC and MSI tests. Additionally, we conducted IHC for p53 and L1CAM.

RESULTS

The 183 ECs were categorized into four subgroups: -mutated (15.9%), MMR-deficient (29.0%), p53-abnormal (8.7%), and non-specific molecular profile (NSMP, 46.4%). We further subcategorized the NSMP subgroup into NSMP-L1CAMneg (41.5%) and NSMP-L1CAMpos (4.9%), which we refer to as the molecular L1CAM classification. The molecular L1CAM classification was an independent prognostic factor for recurrence-free survival (RFS) and overall survival (OS) ( < 0.001, each).

CONCLUSION

Integrating molecular L1CAM classification can enhance risk stratification in early-stage EC, providing valuable prognostic information to guide treatment decisions and improve patient outcomes. ddPCR might be a cost-effective and easy-to-perform test as an alternative to NGS.